Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782401
rs587782401
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families. 28608266

2018
dbSNP: rs587782401
rs587782401
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility. 28386063

2017
dbSNP: rs587782401
rs587782401
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107

2017
dbSNP: rs587782401
rs587782401
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358

2016
dbSNP: rs587782401
rs587782401
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016